Gyrate atrophy of the choroid and retina - Approaches to therapy

Richard G. Weleber, Nancy G. Kennaway, Neil R.M. Buist

Research output: Contribution to journalArticle

12 Scopus citations

Abstract

Gyrate atrophy of the choroid and retina is caused by deficient activity of ornithine ketoacid aminotransferase, a pyridoxal phosphate dependent enzyme. Besides the typical eye findings, abnormalities have been found on muscle biopsy, electro-encephalography, electromyography and electrocardiography, establishing this as a generalized disorder. Ornithine is markedly elevated in plasma and other body fluids. Plasma lysine, glutamate, glutamine and creatine are reduced. The possible contributions of these biochemical disturbances to the pathogenesis of gyrate atrophy are discussed. The disease is one of the few examples of an inherited chorioretinal dystrophy whose underlying biochemical defect is known. It therefore offers a unique opportunity to develop and test rational approaches to therapy. These include lowering of the abnormally high ornithine by dietary restriction of its precursor arginine, facilitation of ornithine excretion by administation of α-aminoisobutyric acid, replacement of deficient products such as lysine or creatine, or increasing residual enzyme activity by high levels of cofactor (vitamin B6). The results of several studies employing such approaches to therapy are presented as well as preliminary indications of possible benefit in a few patients.

Original languageEnglish (US)
Pages (from-to)23-32
Number of pages10
JournalInternational Ophthalmology
Volume4
Issue number1-2
DOIs
StatePublished - Aug 1 1981

Keywords

  • creatine
  • gyrate atrophy
  • lysine
  • ornithine
  • vitamin B

ASJC Scopus subject areas

  • Ophthalmology

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